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Epileptic spasms in congenital disorders of glycosylation Volume 19, issue 1, March 2017

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  • [Helander et al., 2013] Helander A., Stodberg T., Jaeken J. Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation. Mol Gen Metab. 2013;110:342-344. 3
  • [Ishikawa et al., 2009] Ishikawa N., Tajima J., Ono H., Kobayashi M. Different neuroradiological findings during two stroke-like episodes in a patient with a congenital disorder of glycosylation type Ia. Brain Dev. 2009;31:240-243. 3
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  • [Rind et al., 2010] Rind N., Schmeiser V., Thiel C. A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip. Hum Mol Genet. 2010;19:1413-1424. 8
  • [Schwarz et al., 2004] Schwarz M., Thiel C., Lubbenhusen J. Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik. Am J Hum Genet. 2004;74:472-481.
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